ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8382C>G (p.Phe2794Leu) (rs80359084)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130127 SCV000184959 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-22 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502096 SCV000592188 uncertain significance not specified 2014-10-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000502096 SCV000600800 uncertain significance not specified 2017-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000766553 SCV000617126 uncertain significance not provided 2017-04-07 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8382C>G at the cDNA level, p.Phe2794Leu (F2794L) at the protein level, and results in the change of a Phenylalanine to a Leucine (TTC>TTG). Using alternate nomenclature, this variant would be defined as BRCA2 8610C>G. Although this variant has not, to our knowledge, been published in the literature as pathogenic or benign, this residue has been predicted to be crucial to maintain proper protein folding (Biswas 2012). BRCA2 Phe2794Leu was not observed at a significant frequency in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Phenylalanine and Leucine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Phe2794Leu occurs at a position that is conserved in mammals and is located in the DNA binding domain (Yang 2002). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA2 Phe2794Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113922 SCV000147351 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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